An inexpensive, specific and highly sensitive protocol to detect the BrafV600E mutation in melanoma tumor biopsies and blood

Melanoma Research

Volumn 20, Issue 5, 2010, Pages 401-407

  Panka, David J ^a   Sullivan, Ryan J ^a   Mier, James W ^a  

^a BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

Author keywords

BrafV600E; melanoma; TspR1

Indexed keywords

B RAF KINASE;

ARTICLE; CLINICAL PROTOCOL; DNA SCREENING; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; MELANOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TUMOR BIOPSY; WILD TYPE;

AMINO ACID SUBSTITUTION; BIOPSY; BLOOD CHEMICAL ANALYSIS; CELL LINE, TUMOR; COST-BENEFIT ANALYSIS; CYTOGENETIC ANALYSIS; DNA MUTATIONAL ANALYSIS; GLUTAMIC ACID; HT29 CELLS; HUMANS; MELANOMA; MODELS, BIOLOGICAL; PROTO-ONCOGENE PROTEINS B-RAF; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SKIN NEOPLASMS; VALINE;

EID: 77957585949     PISSN: 09608931     EISSN: None     Source Type: Journal    
DOI: 10.1097/CMR.0b013e32833d8d48     Document Type: Article

References (26)

1. Oikonomou E, Makrodouli E, Evagelidou M, Joyce T, Probert L, Pintzas A. BRAF (V600E) efficient transformation and induction of microsatellite instability versus KRAS (G12V) induction of senescence markers in human colon cancer cells. Neoplasia 2009;11:1116-1131.
2. French AJ, Sargent DJ, Burgart LJ, Foster NR, Kabat BF, Goldberg R, et al. Prognostic significance of defective mismatch repair and BRAF V600E in patients with colon cancer. Clin Cancer Res 2008;14:3408-3415.
3. Vandrovcova J, Lagerstedt-Robinsson K, Påhlman L, Lindblom A. Somatic BRAF-V600E mutations in familial colorectal cancer. Cancer Epidemiol Biomarkers Prev 2006;15:2270-2273.
4. Cradic KW, Milosevic D, Rosenberg AM, Erickson LA, McIver B, Grebe SK. Mutant BRAF (T1799A) can be detected in the blood of papillary thyroid carcinoma patients and correlates with disease status. J Clin Endocrinol Metab 2009;94:5001-5009.
5. Orru G, Coghe F, Faa G, Pillai S, Manieli C, Montaldo C, et al. Rapid multiplex real-time PCR by molecular beacons for different BRAF allele detection in papillary thyroid carcinoma. Diagn Mol Pathol 2010;19:1-8.
6. Wojciechowska K, Lewinski A. BRAF mutations in papillary thyroid carcinoma. Endocr Regul 2006;40:129-138.
7. Kwak JY, Kim EK, Kim JK, Han JH, Hong SW, Park TS, et al. Dual priming oligonucleotide-based multiplex PCR analysis for detection of BRAF (V600E) mutation in FNAB samples of thyroid nodules in BRAF (V600E) mutation-prevalent area. Head Neck 2010;32:490-498.
8. Zatelli MC, Trasforini G, Leoni S, Frigato G, Buratto M, Tagliati F, et al. BRAF V600E mutation analysis increases diagnostic accuracy for papillary thyroid carcinoma in fine-needle aspiration biopsies. Eur J Endocrinol 2009;161:467-473.
9. Schiffman JD, Hodgson JG, VandenBerg SR, Flaherty P, Polley MY, Yu M, et al. Oncogenic BRAF mutation with CDKN2A inactivation is characteristic of a subset of pediatric malignant astrocytomas. Cancer Res 2010;70:512-519.
10. Jeong JH, Wang Z, Guimaraes AS, Ouyang X, Figueiredo JL, Ding Z, et al. BRAF activation initiates but does not maintain invasive prostate adenocarcinoma. PLoS One 2008;3: e3949.
11. Litterman AJ, Pollens D, Warycha MA, Shapiro RL, Berman RS, Pavlick C, et al. Tumor heterogeneity: evidence from BRAF V600E mutation detection. J Clin Oncol 2008;26(20 Suppl) [abstr 20022-20022].
12. McCullough RM, Cantor CR, Ding C. High-throughput alternative splicing quantification by primer extension and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Nucleic Acids Res 2005;33: e99.
13. Elvidge GP, Price TS, Glenny L, Ragoussis J. Development and evaluation of real competitive PCR for high-throughput quantitative applications. Anal Biochem 2005;339:231-241.
14. Kitago M, Koyanagi K, Nakamura T, Goto Y, Faries M, O'Day SJ, et al. mRNA expression and BRAF mutation in circulating melanoma cells isolated from peripheral blood with high molecular weight melanoma-associated antigenspecific monoclonal antibody beads. Clin Chem 2009;55:757-764.
15. Langland R, Sharp T, Tsai J, Williams M, Wu L. Development of a companion diagnostic test for inhibitors of V600E BRAF. First AACR International Conference on Molecular Diagnostics in Cancer Therapeutic Development. September 2006. [abstr nr A13]
16. Miller CJ, Cheung M, Sharma A, Clarke L, Helm K, Mauger D, et al. Method of mutation analysis may contribute to discrepancies in reports of (V599E) BRAF mutation frequencies in melanocytic neoplasms. J Invest Dermatol 2004;123:990-992.
17. Board RE, Ellison G, Orr MC, Kemsley KR, McWalter G, Blockley LY, et al. Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study. Br J Cancer 2009;101:1724-1730.
18. Morlan J, Baker J, Sinicropi D. Mutation detection by real-time PCR: a simple, robust and highly selective method. PLoS One 2009;4: e4584.
19. Oldenburg RP, Liu MS, Kolodney MS. Selective amplification of rare mutations using locked nucleic acid oligonucleotides that competitively inhibit primer binding to wild-type DNA. J Invest Dermatol 2008;128:398-402.
20. Dominguez PL, Kolodney MS. Wild-type blocking polymerase chain reaction for detection of single nucleotide minority mutations from clinical specimens. Oncogene 2005;24:6830-6834.
21. Domingo E, Laiho P, Ollikainen M, Pinto M, Wang L, French AJ, et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 2004;41:664-668.
22. Wilson BJ, Kocvara H. A simple rapid method for layering blood on Ficoll-Isopaque gradients. J Immunol Meth 1975;9:67-68.
23. Ju ST, Panka DJ, Cui H, Ettinger R, el-Khatib M, Sherr DH, et al. Fas (CD95)/FasL interactions required for programmed cell death after T-cell activation. Nature 1995;373:444-448.
24. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, et al. Mutations of the BRAF gene in human cancer. Nature 2002;417:949-954.
25. Calleros L, Sánchez-Hernández I, Baquero P, Toro MJ, Chiloeches A. Oncogenic Ras, but not (V600E) B-RAF, protects from cholesterol depletioninduced apoptosis through the PI3K/AKT pathway in colorectal cancer cells. Carcinogenesis 2009;30:1670-1677.
26. Sidransky D, Cohen Y, Xing M. US Patent 7378233-BRAF mutation T1796A in thyroid cancers. 2008.